Canonical Allele Identifier: CA2622328925

Gene: SACS

Linked Data

• gnomAD v4: 13-23334344-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334347_23334348del , CM000675.2:g.23334347_23334348del	GRCh38
NC_000013.10:g.23908486_23908487del , CM000675.1:g.23908486_23908487del	GRCh37
NC_000013.9:g.22806486_22806487del	NCBI36
NG_012342.1:g.104357_104358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19439_2185+19440del	ENSP00000508399.1:n.2185+19439_2185+19440del
ENST00000682944.1:c.9557_9558del	ENSP00000507173.1:p.Tyr3186SerfsTer2
ENST00000683210.1:c.2185+19439_2185+19440del	ENSP00000506739.1:n.2185+19439_2185+19440del
ENST00000683270.1:c.6445+3076_6445+3077del	ENSP00000507624.1:n.6445+3076_6445+3077del
ENST00000683367.1:c.2177-4862_2177-4861del	ENSP00000507780.1:n.2177-4862_2177-4861del
ENST00000683489.1:c.2292-4394_2292-4393del	ENSP00000508403.1:n.2292-4394_2292-4393del
ENST00000683680.1:c.2319-4394_2319-4393del	ENSP00000507223.1:n.2319-4394_2319-4393del
ENST00000684163.1:c.2204-4862_2204-4861del	ENSP00000508262.1:n.2204-4862_2204-4861del
ENST00000684196.1:n.4543-4862_4543-4861del
ENST00000684325.1:c.2186-12672_2186-12671del	ENSP00000508121.1:n.2186-12672_2186-12671del
ENST00000684385.1:c.2221-4862_2221-4861del	ENSP00000507855.1:n.2221-4862_2221-4861del
ENST00000684497.1:c.2186-11702_2186-11701del	ENSP00000507057.1:n.2186-11702_2186-11701del
ENST00000382292.9:c.9530_9531del MANE Select	ENSP00000371729.3:p.Tyr3177SerfsTer2
ENST00000423156.2:c.2186-4862_2186-4861del	ENSP00000390925.2:n.2186-4862_2186-4861del
ENST00000455470.6:c.2432-4862_2432-4861del	ENSP00000406565.2:n.2432-4862_2432-4861del
ENST00000382292.7:c.9530_9531del	ENSP00000371729.3:p.Tyr3177SerfsTer2
ENST00000382298.7:c.9530_9531del	ENSP00000371735.3:p.Tyr3177SerfsTer2
ENST00000402364.1:c.7280_7281del	ENSP00000385844.1:p.Tyr2427SerfsTer2
ENST00000423156.1:c.1058-4862_1058-4861del	ENSP00000390925.1:n.1058-4862_1058-4861del
ENST00000455470.5:c.2130-4862_2130-4861del
NM_001278055.1:c.9089_9090del	NP_001264984.1:p.Tyr3030SerfsTer2
NM_014363.5:c.9530_9531del	NP_055178.3:p.Tyr3177SerfsTer2
XM_005266338.1:c.9557_9558del	XP_005266395.1:p.Tyr3186SerfsTer2
XM_011535038.1:c.9581_9582del	XP_011533340.1:p.Tyr3194SerfsTer2
XM_011535039.1:c.9548_9549del	XP_011533341.1:p.Tyr3183SerfsTer2
XM_005266338.2:c.9557_9558del	XP_005266395.1:p.Tyr3186SerfsTer2
XM_011535039.2:c.9548_9549del	XP_011533341.1:p.Tyr3183SerfsTer2
XM_017020539.1:c.9521_9522del	XP_016876028.1:p.Tyr3174SerfsTer2
XM_024449337.1:c.9557_9558del	XP_024305105.1:p.Tyr3186SerfsTer2
NM_014363.6:c.9530_9531del MANE Select	NP_055178.3:p.Tyr3177SerfsTer2
NM_001278055.2:c.9089_9090del	NP_001264984.1:p.Tyr3030SerfsTer2